Abstract
Abstract A long-established hypothesis is that schizophrenia has a strong genetic component. In the early 1990s, the first genetic variant that substantially increases risk for psychosis was identified. Since this initial reporting of deletions in the chromosomal region 22q11.2, nearly two decades passed until substantial insights into schizophrenia’s genetic architecture were gained. Schizophrenia is a polygenic disorder and genetic risk is conferred by both common and rare alleles distributed across the genome. A small number of rare, deleterious copy number variants (CNVs) are associated with moderate to substantial increases in individual risk to schizophrenia. These deletions and duplications are also associated with a range of neurodevelopmental disorders. The diagnostic investigation of CNVs in patients with schizophrenia is likely to represent one of the first examples of genetic testing in clinical psychiatry. The prerequisites for this are currently being defined.
Highlights
Schizophrenia is a severe neuropsychiatric disorder with a lifetime prevalence of ∼1 %
Schizophrenia is a polygenic disorder and genetic risk is conferred by both common and rare alleles distributed across the genome
The present article provides a concise overview of the current understanding of the genetic architecture of schizophrenia
Summary
Schizophrenia is a severe neuropsychiatric disorder with a lifetime prevalence of ∼1 %. Patients with schizophrenia display a broad range of symptoms which include hallucinations, delusions, disorganized speech and/or behavior, and negative symptoms such as a blunted affect [1]. Schizophrenia is a clinical diagnosis and currently there is no single clinical or laboratory test available to confirm or rule out the diagnosis. Schizophrenia is a multifactorial disorder with both genetic and environmental factors contributing to its development. Since the reporting of this first unequivocal genetic risk factor for schizophrenia, nearly two decades passed before substantial insights into disease-relevant biological mechanisms were gained [6,7,8,9,10,11,12]. The present article provides a concise overview of the current understanding of the genetic architecture of schizophrenia
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